KEGG   NETWORK: N01158
Entry
N01158                      Network                                

Name
Mutation-caused aberrant DCTN1 to retrograde axonal transport
Definition
DCTN1* // (TUBA+TUBB)
  Expanded
1639v1 // ((7846,10376,84790,7278,113457,112714,7277,51807)+(203068,81027,7280,347733,10381,10382,10383,84617,347688))
Class
nt06419 Microtubule-based transport
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
1639  DCTN1; dynactin subunit 1
7846  TUBA1A; tubulin alpha 1a
10376  TUBA1B; tubulin alpha 1b
84790  TUBA1C; tubulin alpha 1c
7278  TUBA3C; tubulin alpha 3c
113457  TUBA3D; tubulin alpha 3d
112714  TUBA3E; tubulin alpha 3e
7277  TUBA4A; tubulin alpha 4a
51807  TUBA8; tubulin alpha 8
203068  TUBB; tubulin beta class I
81027  TUBB1; tubulin beta 1 class VI
7280  TUBB2A; tubulin beta 2A class IIa
347733  TUBB2B; tubulin beta 2B class IIb
10381  TUBB3; tubulin beta 3 class III
10382  TUBB4A; tubulin beta 4A class IVa
10383  TUBB4B; tubulin beta 4B class IVb
84617  TUBB6; tubulin beta 6 class V
347688  TUBB8; tubulin beta 8 class VIII
Variant
1639v1 (DCTN1*)  DCTN1 mutaion
Reference
  Authors
Brown RH, Al-Chalabi A
  Title
Amyotrophic Lateral Sclerosis.
  Journal
N Engl J Med 377:162-172 (2017)
DOI:10.1056/NEJMra1603471
Reference
  Authors
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH
  Title
Mutant dynactin in motor neuron disease.
  Journal
Nat Genet 33:455-6 (2003)
DOI:10.1038/ng1123
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